Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation: A Novel DARS2 Mutation and Intra‐Familial Heterogeneity

BACKGROUND: Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) is characterized by slowly progressive spastic gait, cerebellar symptoms, and posterior cord dysfunction. DARS2, which encodes mitochondrial aspartyl tRNA synthase, is associated with the rare dis...

Descripción completa

Detalles Bibliográficos
Autores principales: Li, Jeng‐Lin, Lee, Ni‐Chung, Chen, Pin‐Shiuan, Lee, Gin Hoong, Wu, Ruey‐Meei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2021
Materias:
Case Series with Literature Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8485606/
https://www.ncbi.nlm.nih.gov/pubmed/34631948
http://dx.doi.org/10.1002/mdc3.13281

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8485606/
https://www.ncbi.nlm.nih.gov/pubmed/34631948
http://dx.doi.org/10.1002/mdc3.13281

Ejemplares similares